메뉴 건너뛰기




Volumn 120 A, Issue 2, 2003, Pages 289-291

Re-evaluation of kyphomelic dysplasia [2]

Author keywords

[No Author keywords available]

Indexed keywords

BONE BOWING; BONE DYSPLASIA; CARTILAGE HYPOPLASIA; CASE REPORT; CHONDRODYSPLASIA; FEMALE; HUMAN; KYPHOMELIC DYSPLASIA; LETTER; MICROMELIA; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0041321311     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (7)

References (20)
  • 2
    • 0022234276 scopus 로고
    • Lethal neonatal chondrodysplasias in the west of Scotland 1970-1983 with a description of a thanatophoric, dysplasia like, autosomal recessive disorder, Glasgow variant
    • Connor JM, Connor RAC, Sweet EM, Gibson AAM, Patrick WJA, McNay MB, Redford DHA. 1985. Lethal neonatal chondrodysplasias in the west of Scotland 1970-1983 with a description of a thanatophoric, dysplasia like, autosomal recessive disorder, Glasgow variant. Am J Med Genet 22:243-253.
    • (1985) Am J Med Genet , vol.22 , pp. 243-253
    • Connor, J.M.1    Connor, R.A.C.2    Sweet, E.M.3    Gibson, A.A.M.4    Patrick, W.J.A.5    McNay, M.B.6    Redford, D.H.A.7
  • 3
    • 0029072162 scopus 로고
    • Association of kyphomelic dysplasia with severe combined immunodeficiency
    • Corder WT, Hummel M, Miller C, Wilson NW. 1995. Association of kyphomelic dysplasia with severe combined immunodeficiency. Am J Med Genet 57:626-629.
    • (1995) Am J Med Genet , vol.57 , pp. 626-629
    • Corder, W.T.1    Hummel, M.2    Miller, C.3    Wilson, N.W.4
  • 6
    • 0037110974 scopus 로고    scopus 로고
    • International nosology and classification of constitutional disorders of bone, 2001
    • Hall CM, The international nomenclature Group on Constitutional Disorders of Bone. 2002. International nosology and classification of constitutional disorders of bone, 2001. Am J Med Genet 113:65-77.
    • (2002) Am J Med Genet , vol.113 , pp. 65-77
    • Hall, C.M.1
  • 7
    • 0018361564 scopus 로고
    • Familial congenital bowing with short bones
    • Hall BD, Spranger JW. 1979. Familial congenital bowing with short bones. Radiology 132:611-614.
    • (1979) Radiology , vol.132 , pp. 611-614
    • Hall, B.D.1    Spranger, J.W.2
  • 9
    • 0026094520 scopus 로고
    • Cartilage hair hypoplasia in infancy: A misleading chondrodysplasia
    • Le Merrer M, Maroteaux P. 1991. Cartilage hair hypoplasia in infancy: A misleading chondrodysplasia. Eur J Pediat 150:847-851.
    • (1991) Eur J Pediat , vol.150 , pp. 847-851
    • Le Merrer, M.1    Maroteaux, P.2
  • 10
    • 0020661609 scopus 로고
    • Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia)
    • Maclean RN, Prater WK, Lozzio CB. 1983. Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). Am J Med Genet 14:373-380.
    • (1983) Am J Med Genet , vol.14 , pp. 373-380
    • Maclean, R.N.1    Prater, W.K.2    Lozzio, C.B.3
  • 11
    • 0023938251 scopus 로고
    • Recessive lethal chondrodysplasia "round femoral inferior epiphysis type"
    • Maroteaux P, Stanescu R, Stanescu V, Cousin J. 1988. Recessive lethal chondrodysplasia "round femoral inferior epiphysis type." Eur J Pediatr 147:408-411.
    • (1988) Eur J Pediatr , vol.147 , pp. 408-411
    • Maroteaux, P.1    Stanescu, R.2    Stanescu, V.3    Cousin, J.4
  • 13
    • 0028434874 scopus 로고
    • Kyphomelic dysplasia
    • Letter
    • O'Reilly MAR, Hall CM. 1994. Kyphomelic dysplasia. (Letter) J Med Genet 31:423-427.
    • (1994) J Med Genet , vol.31 , pp. 423-427
    • O'Reilly, M.A.R.1    Hall, C.M.2
  • 14
    • 0032843653 scopus 로고    scopus 로고
    • Kyphomelic dysplasia: Clinical and radiologic long-term follow-up of one case and review of the literature
    • Pallotta R, Ehresman T, Roggini MM, Fusilli P. 1999. Kyphomelic dysplasia: Clinical and radiologic long-term follow-up of one case and review of the literature. Radiology 212:847-852.
    • (1999) Radiology , vol.212 , pp. 847-852
    • Pallotta, R.1    Ehresman, T.2    Roggini, M.M.3    Fusilli, P.4
  • 15
    • 0021258772 scopus 로고
    • Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity: Report of the clinical and radiological findings in two siblings
    • Rezza E, Iannaccone G, Lendvai D. 1984. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity: Report of the clinical and radiological findings in two siblings. Pediatr Radiol 14:323-327.
    • (1984) Pediatr Radiol , vol.14 , pp. 323-327
    • Rezza, E.1    Iannaccone, G.2    Lendvai, D.3
  • 17
    • 0034597369 scopus 로고    scopus 로고
    • Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
    • Spranger J, Hall BD, Hane B, Srivastava A, Stevenson RE. 2000. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Am J Med Genet 94:287-295.
    • (2000) Am J Med Genet , vol.94 , pp. 287-295
    • Spranger, J.1    Hall, B.D.2    Hane, B.3    Srivastava, A.4    Stevenson, R.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.